短串联重复序列聚合酶链反应技术快速诊断常见染色体三体的价值

Polymerase chain reaction with short tandem repeat(STR-PCR) for the rapid detection of common trisomy

目的探讨短串联重复序列聚合酶链反应技术(STR-PCR)诊断染色体三体应用价值。方法2003年12月至2005年2月对广州医学院第三附属医院染色体结果已知的50例正常样本和17例唐氏综合征(Down's)患者样本进行STR-PCR检测。结果50例正常样本的21、18、13号染色体数目检出符合率为82%、96%、96%,假阳性率为2%;17例唐氏综合征患者的检出率为100%;11例Down's患者家庭中,除3例额外的21号染色体来源不能判定外,8例均来源于母亲,其中7例来源减数分裂Ⅰ不分离,1例来源减数分裂Ⅱ不分离。结论STR-PCR技术可以快速诊断Down's等常见染色体三体,并判断额外染色体的来源及发生阶段。

Objection To establish the method of polymerase chain reaction with short tandem repeat （STR-PCR） for the rapid detection of common trisomy. Methods Totally 50 cases of normal individuals and 17 cases of Down＇ s patients confirmed by cytogenetic analysis were detected by STR-PCR. Results The detective coincidence rate of 21,18 and 13 chromosome in 50 normal people was 82% ,96% and 96%, respectively. The false positive rate was 2%. The detection rate of Down＇s patients was 100%. Seven eases of maternal meiosis Ⅰ error and 1 ease of maternal meiosis Ⅱ error were found in Down＇s family. Conclusion STR-PCR can rapidly confirm Down＇s syndrome and the source of extra chromo-some.